• Publications
  • Influence
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
AMYOTROPHIC lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord1,2. Its cause is unknown and it is uniformly fatal, typically within fiveExpand
  • 6,099
  • 273
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused inExpand
  • 2,027
  • 201
  • PDF
Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
Many mutations confer one or more toxic function(s) on copper/zinc superoxide dismutase 1 (SOD1) that impair motor neuron viability and cause familial amyotrophic lateral sclerosis (FALS). Using aExpand
  • 593
  • 53
  • PDF
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. WeExpand
  • 601
  • 49
Wild-Type Nonneuronal Cells Extend Survival of SOD1 Mutant Motor Neurons in ALS Mice
The most common form of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease affecting adult motor neurons, is caused by dominant mutations in the ubiquitously expressed Cu-Zn superoxideExpand
  • 1,018
  • 47
  • PDF
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.
Mutations in the RNA-binding protein FUS (fused in sarcoma) are linked to amyotrophic lateral sclerosis (ALS), but the mechanism by which these mutants cause motor neuron degeneration is not known.Expand
  • 402
  • 45
  • PDF
Mutant dynactin in motor neuron disease
Impaired axonal transport in motor neurons has been proposed as a mechanism for neuronal degeneration in motor neuron disease. Here we show linkage of a lower motor neuron disease to a region of 4 MbExpand
  • 906
  • 44
dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway
Sarm-Assisted Suicide Neurodegenerative disease or nerve lesions cause axons and synapses to disintegrate through a process known as Wallerian degeneration, which may involve an active “axon deathExpand
  • 352
  • 32
  • PDF
Evidence of Increased Oxidative Damage in Both Sporadic and Familial Amyotrophic Lateral Sclerosis
Abstract: Some cases of autosomal dominant familial amyotrophic lateral sclerosis (FALS) are associated with mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1), suggesting thatExpand
  • 735
  • 30
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome 2p13. We recently constructed a 3-Mb P1-derived artificial chromosomeExpand
  • 769
  • 29
  • PDF